Incidental Mutation 'R9264:Ssx2ip'
ID 702411
Institutional Source Beutler Lab
Gene Symbol Ssx2ip
Ensembl Gene ENSMUSG00000036825
Gene Name SSX family member 2 interacting protein
Synonyms Adip
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9264 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 146110397-146145899 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 146142955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 511 (V511A)
Ref Sequence ENSEMBL: ENSMUSP00000101759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039021] [ENSMUST00000106149] [ENSMUST00000106151] [ENSMUST00000106153]
AlphaFold Q8VC66
Predicted Effect probably benign
Transcript: ENSMUST00000039021
AA Change: V510A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000045663
Gene: ENSMUSG00000036825
AA Change: V510A

DomainStartEndE-ValueType
Pfam:ADIP 63 214 8.5e-51 PFAM
coiled coil region 266 291 N/A INTRINSIC
coiled coil region 374 411 N/A INTRINSIC
low complexity region 425 435 N/A INTRINSIC
Blast:LPD_N 439 480 3e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000106149
AA Change: V510A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000101755
Gene: ENSMUSG00000036825
AA Change: V510A

DomainStartEndE-ValueType
Pfam:ADIP 63 214 8.5e-51 PFAM
coiled coil region 266 291 N/A INTRINSIC
coiled coil region 374 411 N/A INTRINSIC
low complexity region 425 435 N/A INTRINSIC
Blast:LPD_N 439 480 3e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000106151
AA Change: V510A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000101757
Gene: ENSMUSG00000036825
AA Change: V510A

DomainStartEndE-ValueType
Pfam:ADIP 63 214 8.5e-51 PFAM
coiled coil region 266 291 N/A INTRINSIC
coiled coil region 374 411 N/A INTRINSIC
low complexity region 425 435 N/A INTRINSIC
Blast:LPD_N 439 480 3e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000106153
AA Change: V511A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000101759
Gene: ENSMUSG00000036825
AA Change: V511A

DomainStartEndE-ValueType
Pfam:ADIP 63 214 1.2e-47 PFAM
coiled coil region 266 291 N/A INTRINSIC
coiled coil region 374 410 N/A INTRINSIC
low complexity region 426 436 N/A INTRINSIC
Blast:LPD_N 440 481 3e-7 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (58/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds the cancer-testis antigen Synovial Sarcoma X breakpoint 2 protein. The encoded protein may regulate the activity of Synovial Sarcoma X breakpoint 2 protein in malignant cells. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A T 7: 120,001,056 (GRCm39) I1531L probably benign Het
Adam28 T C 14: 68,844,914 (GRCm39) Y791C probably benign Het
Ankrd40 T A 11: 94,229,187 (GRCm39) I262N probably damaging Het
Catsperg2 A T 7: 29,397,613 (GRCm39) N1033K possibly damaging Het
Cdh10 A T 15: 18,964,081 (GRCm39) D81V probably damaging Het
Cep290 T C 10: 100,333,878 (GRCm39) V310A possibly damaging Het
Cep78 T C 19: 15,951,830 (GRCm39) Y325C probably damaging Het
Clstn3 T A 6: 124,436,727 (GRCm39) D197V probably damaging Het
Col11a1 T C 3: 114,005,809 (GRCm39) I1647T unknown Het
Col5a1 G A 2: 27,854,123 (GRCm39) R569K unknown Het
Cspg4b G A 13: 113,456,014 (GRCm39) V687M Het
Cyp4a10 T C 4: 115,381,475 (GRCm39) S180P probably benign Het
D630045J12Rik T C 6: 38,135,173 (GRCm39) I1336V probably benign Het
Dchs2 G A 3: 83,177,784 (GRCm39) V946M probably damaging Het
Dnah10 A G 5: 124,813,900 (GRCm39) R347G probably damaging Het
Dnah11 T A 12: 117,991,262 (GRCm39) D2368V probably damaging Het
Ganab T C 19: 8,890,228 (GRCm39) I719T possibly damaging Het
Gm10944 C A 10: 10,557,583 (GRCm39) A11D unknown Het
Gmcl1 T C 6: 86,691,195 (GRCm39) M267V probably benign Het
Inhbe T A 10: 127,186,427 (GRCm39) D251V probably damaging Het
Kcnj1 G A 9: 32,307,654 (GRCm39) R26Q probably benign Het
Lama5 A G 2: 179,838,271 (GRCm39) probably benign Het
Lin9 T A 1: 180,494,912 (GRCm39) D251E probably damaging Het
Magel2 T A 7: 62,028,344 (GRCm39) I416N possibly damaging Het
Mdga2 T C 12: 66,560,057 (GRCm39) N772S probably damaging Het
Ms4a20 T A 19: 11,093,830 (GRCm39) M1L probably benign Het
Msh3 G T 13: 92,485,812 (GRCm39) Q171K probably benign Het
Mslnl T G 17: 25,961,506 (GRCm39) probably benign Het
Mtpn A G 6: 35,489,176 (GRCm39) L116P possibly damaging Het
Myh7 T C 14: 55,213,454 (GRCm39) T1351A probably benign Het
Nectin3 A T 16: 46,274,998 (GRCm39) I353N probably damaging Het
Nprl3 A T 11: 32,183,948 (GRCm39) N500K probably benign Het
Nup93 T A 8: 95,019,348 (GRCm39) I181N probably benign Het
Optc T C 1: 133,832,978 (GRCm39) I41V probably benign Het
Or1b1 G A 2: 36,994,801 (GRCm39) T287I probably damaging Het
Or4p23 T C 2: 88,576,776 (GRCm39) H152R probably damaging Het
Pcdh7 C A 5: 58,286,663 (GRCm39) N1246K probably benign Het
Pcdhb3 T A 18: 37,435,166 (GRCm39) D377E probably benign Het
Pnpla6 C T 8: 3,573,294 (GRCm39) P386L probably benign Het
Polr3a T C 14: 24,520,899 (GRCm39) T587A probably benign Het
Pramel1 T G 4: 143,125,099 (GRCm39) L341R probably damaging Het
Rhot2 A T 17: 26,060,740 (GRCm39) N210K probably damaging Het
Slc37a1 A G 17: 31,519,459 (GRCm39) I12V probably benign Het
Spmip7 T A 11: 11,414,678 (GRCm39) D141E Het
Sstr3 G T 15: 78,423,792 (GRCm39) N318K probably damaging Het
Stfa1 G A 16: 36,100,930 (GRCm39) V57I unknown Het
Syne1 T G 10: 5,212,793 (GRCm39) R3265S probably damaging Het
Tacc2 G T 7: 130,228,533 (GRCm39) K1739N probably damaging Het
Tas2r143 A T 6: 42,377,673 (GRCm39) M168L probably benign Het
Tm4sf1 A T 3: 57,202,031 (GRCm39) probably null Het
Ttc16 A G 2: 32,653,017 (GRCm39) I604T possibly damaging Het
Ugt1a10 T A 1: 87,983,393 (GRCm39) W64R possibly damaging Het
Usp34 A T 11: 23,439,064 (GRCm39) H3561L Het
Vasp C T 7: 18,993,376 (GRCm39) V276I unknown Het
Vwa3a A G 7: 120,374,687 (GRCm39) N333S probably benign Het
Wipf3 A G 6: 54,460,866 (GRCm39) N105D probably benign Het
Zfp760 T C 17: 21,942,663 (GRCm39) S613P possibly damaging Het
Other mutations in Ssx2ip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00593:Ssx2ip APN 3 146,142,307 (GRCm39) missense probably damaging 1.00
IGL01140:Ssx2ip APN 3 146,133,598 (GRCm39) missense probably benign 0.02
IGL01810:Ssx2ip APN 3 146,133,765 (GRCm39) missense probably benign 0.00
BB004:Ssx2ip UTSW 3 146,138,365 (GRCm39) missense probably damaging 1.00
BB014:Ssx2ip UTSW 3 146,138,365 (GRCm39) missense probably damaging 1.00
R0432:Ssx2ip UTSW 3 146,132,184 (GRCm39) missense probably damaging 1.00
R0903:Ssx2ip UTSW 3 146,136,732 (GRCm39) missense probably benign
R2228:Ssx2ip UTSW 3 146,123,531 (GRCm39) missense probably damaging 0.98
R3151:Ssx2ip UTSW 3 146,124,138 (GRCm39) missense probably benign 0.00
R4348:Ssx2ip UTSW 3 146,138,245 (GRCm39) missense probably benign 0.01
R4446:Ssx2ip UTSW 3 146,132,186 (GRCm39) missense probably benign 0.31
R4796:Ssx2ip UTSW 3 146,124,114 (GRCm39) missense probably benign 0.00
R5054:Ssx2ip UTSW 3 146,136,672 (GRCm39) splice site probably benign
R5338:Ssx2ip UTSW 3 146,142,296 (GRCm39) critical splice acceptor site probably null
R5520:Ssx2ip UTSW 3 146,143,066 (GRCm39) missense probably benign 0.03
R5898:Ssx2ip UTSW 3 146,133,586 (GRCm39) missense possibly damaging 0.94
R6367:Ssx2ip UTSW 3 146,124,921 (GRCm39) missense probably benign 0.16
R6777:Ssx2ip UTSW 3 146,144,476 (GRCm39) missense possibly damaging 0.88
R7082:Ssx2ip UTSW 3 146,136,703 (GRCm39) missense probably benign 0.01
R7239:Ssx2ip UTSW 3 146,133,771 (GRCm39) missense probably damaging 1.00
R7249:Ssx2ip UTSW 3 146,132,193 (GRCm39) missense possibly damaging 0.81
R7772:Ssx2ip UTSW 3 146,138,885 (GRCm39) missense probably damaging 0.99
R7927:Ssx2ip UTSW 3 146,138,365 (GRCm39) missense probably damaging 1.00
R7935:Ssx2ip UTSW 3 146,124,928 (GRCm39) missense probably benign 0.00
R8011:Ssx2ip UTSW 3 146,128,666 (GRCm39) missense probably damaging 0.97
R8540:Ssx2ip UTSW 3 146,124,114 (GRCm39) missense probably benign 0.00
R9050:Ssx2ip UTSW 3 146,144,512 (GRCm39) missense possibly damaging 0.51
R9775:Ssx2ip UTSW 3 146,136,808 (GRCm39) missense probably benign 0.02
RF004:Ssx2ip UTSW 3 146,132,195 (GRCm39) nonsense probably null
Z1177:Ssx2ip UTSW 3 146,133,902 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCCTCTGTTTGCGGAATGTG -3'
(R):5'- AGACAGCATGAATGAGTCAACC -3'

Sequencing Primer
(F):5'- TGTGTGACAGAGATGACAGTTAACC -3'
(R):5'- GAGTCAACCTAATTTCTTCCCACAG -3'
Posted On 2022-03-25